ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.709+18G>A

gnomAD frequency: 0.00158  dbSNP: rs200584878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153298 SCV000202775 uncertain significance not provided 2014-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522152 SCV001731633 benign UDPglucose-4-epimerase deficiency 2024-01-31 criteria provided, single submitter clinical testing

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